Works matching DE "HUMAN abnormality genetics"
Results: 217
Síndrome dismórfico con anomalías congénitas múltiples: Clasificación actual.
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- Revista Mexicana de Pediatria, 2009, v. 76, n. 3, p. 132
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- Article
GATA3 haplo-insufficiency causes human HDR syndrome.
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- Nature, 2000, v. 406, n. 6794, p. 419, doi. 10.1038/35019088
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- Publication type:
- Article
Engineering a broken heart.
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- Nature, 1999, v. 401, n. 6751, p. 335, doi. 10.1038/43804
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- Article
A Note on Angiogenesis.
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- Journal of Dermatologic Surgery & Oncology, 1978, v. 4, n. 11, p. 827, doi. 10.1111/j.1524-4725.1978.tb00559.x
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- Publication type:
- Article
The effects of parental smoking and heredity on the etiology of childhood strabismus: A twin study.
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- Human & Experimental Toxicology, 1999, v. 18, n. 4, p. 304, doi. 10.1191/096032799678840101
- Publication type:
- Article
Goldenhar Syndrome With Various Clinical Manifestations.
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- Cleft Palate Craniofacial Journal, 2006, v. 43, n. 5, p. 628, doi. 10.1597/05-094
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- Publication type:
- Article
Brazil's Craniofacial Project: Genetic Evaluation and Counseling in the Reference Network for Craniofacial Treatment.
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- Cleft Palate Craniofacial Journal, 2006, v. 43, n. 5, p. 577, doi. 10.1597/04-203
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- Article
Dental Age in Children With a Complete Unilateral Cleft Lip and Palate.
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- Cleft Palate Craniofacial Journal, 2006, v. 43, n. 5, p. 612, doi. 10.1597/05-096
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- Article
Using offspring-parent triads to study complex traits: A tutorial based on orofacial clefts.
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- Journal of Management & Public Policy, 2012, p. 251
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- Article
Resistance to fragility test of red blood cell in thalassemia and reduction of osmotic force at cell surface.
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- Iranian Journal of Medical Hypotheses & Ideas, 2009, v. 3, p. 1
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- Article
Rejuvenation of Meiotic Cohesion in Oocytes during Prophase I Is Required for Chiasma Maintenance and Accurate Chromosome Segregation.
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- PLoS Genetics, 2014, v. 10, n. 9, p. 1, doi. 10.1371/journal.pgen.1004607
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- Article
Balancing Needs and Autonomy: The Involvement of Pregnant Women's Partners in Decisions About cfDNA.
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- Qualitative Health Research, 2019, v. 29, n. 2, p. 211, doi. 10.1177/1049732318796833
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- Article
Dental Management of Heritable Dental Developmental Anomalies.
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- Pediatric Dentistry, 2017, v. 39, n. 6, p. 348
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- Article
W01-01 - From karyotype to targeted microarray
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- 2012
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- Publication type:
- Abstract
WHO SINNED? PARENTS' KNOWLEDGE OF THE CAUSES OF DISABILITY IN TANZANI.
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- International Journal of Special Education, 2012, v. 27, n. 2, p. 216
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- Article
Lack of pancreatic body and tail in HNF1B mutation carriers.
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- Diabetic Medicine, 2008, v. 25, n. 7, p. 782, doi. 10.1111/j.1464-5491.2008.02460.x
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- Publication type:
- Article
Acquired, non-amyloid related factor X deficiency: review of the literature.
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- Haemophilia, 2012, v. 18, n. 5, p. 655, doi. 10.1111/j.1365-2516.2012.02773.x
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- Article
Impact of genetic abnormalities on survival after allogeneic hematopoietic stem cell transplantation in multiple myeloma.
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- Leukemia (08876924), 2008, v. 22, n. 6, p. 1250, doi. 10.1038/leu.2008.88
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- Publication type:
- Article
Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith-Lemli-Opitz syndrome.
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- Human Molecular Genetics, 2001, v. 10, n. 6, p. 555, doi. 10.1093/hmg/10.6.555
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- Article
New mutations in MID1 provide support for loss of function as the cause of X-linked Opitz syndrome.
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- Human Molecular Genetics, 2000, v. 9, n. 17, p. 2553, doi. 10.1093/hmg/9.17.2553
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- Article
Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations.
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- Human Molecular Genetics, 1999, v. 8, n. 2, p. 165, doi. 10.1093/hmg/8.2.165
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- Article
Gene screening facilitates diagnosis of complicated symptoms: A case report.
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- Molecular Medicine Reports, 2017, v. 16, n. 6, p. 7915, doi. 10.3892/mmr.2017.7590
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- Article
Two novel ADAR1 gene mutations in two patients with dyschromatosis symmetrical hereditaria from birth.
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- Molecular Medicine Reports, 2017, v. 15, n. 6, p. 3715, doi. 10.3892/mmr.2017.6427
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- Publication type:
- Article
Copy-number variation analysis in familial nonsyndromic congenital anomalies of the kidney and urinary tract: Evidence for the causative role of a transposable element-associated genomic rearrangement.
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- Molecular Medicine Reports, 2017, v. 15, n. 6, p. 3631, doi. 10.3892/mmr.2017.6462
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- Publication type:
- Article
Olfactory Agenesis in Kallmann Syndrome (KS).
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- Journal of Clinical & Diagnostic Research, 2015, v. 9, n. 4, p. 1, doi. 10.7860/JCDR/2015/11761.5777
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- Article
La participación del médico genetista en la consulta pediátrica.
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- Revista Medica del IMSS, 2014, v. 52, p. S94
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- Article
Genética de la obesidad.
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- Boletín Médico del Hospital Infantil de México, 2008, v. 65, n. 6, p. 441
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- Article
Consanguinity and inherited epilepsies.
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- Neurology Asia, 2011, v. 16, n. S, p. 11
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- Article
Genetics of large populations in epilepsy: Association studies -- Trials and tribulations.
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- Neurology Asia, 2011, v. 16, n. S, p. 9
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- Article
Heredity in epilepsy -- An historical overview.
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- Neurology Asia, 2011, v. 16, n. S, p. 5
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- Article
Genetic Studies of Endophenotypes From Spine CT Scans Provide Novel Insights Into the Contribution of Mechanosensory Pathways to Vertebral Fractures and Spinal Curvature.
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- 2016
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- Publication type:
- Other
Germline deletion of the miR-17?92 cluster causes skeletal and growth defects in humans.
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- Nature Genetics, 2011, v. 43, n. 10, p. 1026, doi. 10.1038/ng.915
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- Article
Mutations in the pre-replication complex cause Meier-Gorlin syndrome.
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- Nature Genetics, 2011, v. 43, n. 4, p. 356, doi. 10.1038/ng.775
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- Article
Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome.
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- Nature Genetics, 2011, v. 43, n. 4, p. 360, doi. 10.1038/ng.777
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- Article
Sanjad Sakati syndrome: a case series from Jordan.
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- Eastern Mediterranean Health Journal, 2012, v. 18, n. 5, p. 527, doi. 10.26719/2012.18.5.527
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- Article
Immune selective pressure and HLA class I antigen defects in malignant lesions.
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- Cancer Immunology, Immunotherapy, 2007, v. 56, n. 2, p. 227, doi. 10.1007/s00262-006-0183-1
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- Article
Human genetics: An accomplice, by (Di)George!
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- Nature Reviews Genetics, 2003, v. 4, n. 3, p. 167, doi. 10.1038/nrg1028
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- Publication type:
- Article
Pincer nail deformity as the main manifestation of Clouston syndrome.
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- British Journal of Dermatology, 2015, v. 173, n. 2, p. 581, doi. 10.1111/bjd.13703
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- Article
Frameshift Sequence Variants in the Human Lipase-H Gene Causing Hypotrichosis.
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- Pediatric Dermatology, 2016, v. 33, n. 1, p. e40, doi. 10.1111/pde.12727
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- Article
Genomic Profiles for Disease Risk.
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- 2008
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- Publication type:
- Editorial
How to Interpret a Genome-wide Association Study.
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- JAMA: Journal of the American Medical Association, 2008, v. 299, n. 11, p. 1335, doi. 10.1001/jama.299.11.1335
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- Article
Delivery of Genomic Medicine for Common Chronic Adult Diseases.
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- JAMA: Journal of the American Medical Association, 2008, v. 299, n. 11, p. 1320, doi. 10.1001/jama.299.11.1320
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- Article
TASP1 is deleted in an infant with developmental delay, microcephaly, distinctive facial features, and multiple congenital anomalies.
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- Clinical Genetics, 2018, v. 94, n. 1, p. 170, doi. 10.1111/cge.13258
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- Article
Unexpected diagnosis of a SHH nonsense variant causing a variable phenotype ranging from familial coloboma and Intellectual disability to isolated microcephaly.
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- 2018
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- Publication type:
- Case Study
Genetics of patella hypoplasia/agenesis.
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- Clinical Genetics, 2018, v. 94, n. 1, p. 43, doi. 10.1111/cge.13209
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- Article
Issue Information ‐ Editorial Board.
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- Clinical Genetics, 2018, v. 94, n. 1, p. 1, doi. 10.1111/cge.13114
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- Article
Complex phenotypes blur conventional borders between Say-Barber-Biesecker-Young-Simpson syndrome and genitopatellar syndrome.
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- Clinical Genetics, 2017, v. 91, n. 2, p. 339, doi. 10.1111/cge.12840
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- Article
Epispadias and the associated embryopathies: genetic and developmental basis.
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- Clinical Genetics, 2017, v. 91, n. 2, p. 247, doi. 10.1111/cge.12871
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- Publication type:
- Article
Cornelia de Lange syndrome.
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- Clinical Genetics, 2015, v. 88, n. 1, p. 1, doi. 10.1111/cge.12499
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- Article
Views of primary care providers regarding the return of genome sequencing incidental findings.
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- Clinical Genetics, 2014, v. 86, n. 5, p. 461, doi. 10.1111/cge.12390
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- Publication type:
- Article